Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

low density lipoprotein receptor-related protein 6
ska26,  skax26,  skam26Jus Cd

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lrp6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lrp6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Lrp6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Synostosis of ... OMIM:102510
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Hype... OMIM:610947
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes... ORPHA:2839
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... OMIM:214900
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Hemivertebrae, Spina bifida occulta,... OMIM:613686
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:232400
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hepatic f... ORPHA:280356
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... OMIM:603471
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Oral cleft, Large hands, Synophrys, Decreased testicular size, Cryptorchidism, P... ORPHA:85287
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Microphthalmia, Cryptorchidism... ORPHA:363741
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... OMIM:619662
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Osteoporosis OMIM:166710
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Coloboma Of Macula And Skeletal Anomalies
Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger, Genu valgum, Hal... OMIM:216800
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, Spina bifida occulta, Cer... OMIM:184400
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Splenomegaly, ... OMIM:300635
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Retinal coloboma, Abnormality of the dentitio... OMIM:258865
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619658
Aplasia/Hypoplasia of the radius, Spina bifida, Absence of the sacrum, Sirenomelia ORPHA:3169
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... OMIM:616278
Microphthalmia, Isolated 8
Microphthalmia, Short palpebral fissure, Retinal coloboma, Optic nerve hypoplasia, Retinal detach... OMIM:615113
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... ORPHA:446
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, High palate, Bulbous nose, Hydrocephalus, Macrocephaly, Malar ... ORPHA:2180
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Kapur-Toriello Syndrome
Cleft upper lip, Hypoplastic labia majora, Microphthalmia, Joint contracture of the hand, Cleft p... OMIM:244300
Bresek Syndrome
Plagiocephaly, Hydrocephalus, Convex nasal ridge, Protruding ear, Cleft palate, Alopecia, Hemiver... ORPHA:85284
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin ... ORPHA:79085
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Multip... ORPHA:66637
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... OMIM:610017
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... OMIM:607765
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... OMIM:613027
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... OMIM:271500
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation OMIM:223200
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Microphthalmia, Cleft palate, Micrognathia, Anophthalmia, Prominen... OMIM:221950
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... ORPHA:64754
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Downslan... OMIM:200990
Al Kaissi Syndrome
Intrauterine growth retardation, Abnormal pinna morphology, High, narrow palate, Short stature, B... OMIM:617694
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal vertebral mor... ORPHA:163665
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... ORPHA:1797
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Skin rash, Splenomega... OMIM:603552
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased acid sphingomyelin... OMIM:607616
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Myelomeningocele, Hydrocephalus, Talipes equinovarus, Holoprosencephaly, Anencephaly, Hyperlordos... ORPHA:63259
Mmep Syndrome
Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Microphthalmia, Cryptorchidism ORPHA:3434
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Kyphosis, Plagiocephaly, Hypoplastic vertebral bodies, Hypodontia,... ORPHA:2916
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Rotor Syndrome
Abnormal enzyme/coenzyme activity, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Jaundice, I... ORPHA:3111
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Decreased HDL cholesterol concentration, ... OMIM:604367
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia, Hepatic ste... OMIM:615238
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Split... OMIM:183802
Renal Agenesis, Bilateral
Cleft palate, Tracheoesophageal fistula, Sirenomelia, Abnormal morphology of female internal geni... ORPHA:1848
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... ORPHA:567983
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Dolichocephaly, Fragile nails, Microdontia, Frontal ... OMIM:190320
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Upslanted palpebral fissure, Short philtrum, Syn... OMIM:300963
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Attached earlobe, Depressed nasal bridge, Short nose, Mandibular prognathia, Delayed... ORPHA:1327
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Short stature, Depressed nasal bridge, Micrognathia,... OMIM:613849
Pyle Disease
Reduced bone mineral density, Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow ... OMIM:265900
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Gorlin Syndrome
Hydrocephalus, Abnormality of the sense of smell, Hemivertebrae, Vertebral fusion, Scoliosis, Car... ORPHA:377
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... OMIM:619256
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Cleft palate, Split foot, Short palpebral fissure, Oral cleft, M... OMIM:601349
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:144600
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... OMIM:136760
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Micromelia, Spina bifida occulta, Pectus carin... ORPHA:64755
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microphthalmia, Coloboma OMIM:251505
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Plagiocephaly, Macrocephaly, Sparse hair, Low hanging columella, Hyperconvex nail, Dolichocephaly... OMIM:619721
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Downturne... ORPHA:521308
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Bardet-Biedl Syndrome 5
External genital hypoplasia, Rod-cone dystrophy, Micropenis, Syndactyly, Brachydactyly, Polydacty... OMIM:615983
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Cleft palate, Short philtrum, Camptodactyly of finger... ORPHA:1617
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly, Coloboma OMIM:613094
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Slender long bone, Spina bifida occulta, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality... ORPHA:2840
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Ca... OMIM:601016
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Anophthalmia, Polydactyly, Postaxial hand pol... OMIM:613885
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... OMIM:235555
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Hemivertebrae, Radioulnar synostosis, Short nose, Enamel agenesis, Lobar holoprosen... OMIM:614701
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Cryptorchidism... ORPHA:3080
Gluteal Muscles, Absence Of
Optic nerve hypoplasia, Scoliosis, Spina bifida occulta OMIM:231970
Anophthalmia Plus Syndrome
Cleft palate, Anophthalmia, Deviation of finger, Bilateral cleft lip and palate, Iris coloboma, N... ORPHA:1104
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Orofaciodigital Syndrome Type 10
Micrognathia, Long philtrum, Cleft soft palate, Short toe, Telecanthus, Oligodactyly, Tarsal syno... ORPHA:2756
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Preaxial polydactyly, Hypogonadotropic hypogonadism, Hypospadias, ... ORPHA:141333
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... ORPHA:435660
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Acrofacial Dysostosis, Palagonia Type
Bulbous nose, Sparse hair, Short neck, Delayed skeletal maturation, Midface retrusion, Sparse lat... ORPHA:1787
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Single transverse palmar crease, Downslanted palpebral fissures, Sanda... OMIM:206920
Gonadal dysgenesis, xy type, with associated anomalies
Cleft upper lip, Gonadal dysgenesis, Broad palm, Oral cleft, Broad foot, Acromelia OMIM:233430
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Microretrognathia, Cleft palate, Retinal coloboma, Long philtrum, Downturned cor... OMIM:618571
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... OMIM:214950
Coffin-Siris Syndrome 3
Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... OMIM:614608
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Postaxial hand polydactyl... ORPHA:945
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase... ORPHA:79303
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Cam... ORPHA:2311
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Ascites, Jaundice ORPHA:890
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Hypoplastic vertebral bodies, Webbed neck, ... OMIM:263540
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Cutan... OMIM:601829
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure OMIM:143500
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Micropenis, Retinal col... OMIM:616546
Hydrolethalus Syndrome 2
Hydrocephalus, Micrognathia, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly,... OMIM:614120
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphysis morphology, Abn... ORPHA:177
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Sparse hair, Craniosynostosis, Dolichocephaly, Abnormality of the dentit... ORPHA:1515
Hartsfield Syndrome
Microphthalmia, Cleft palate, Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, T... ORPHA:2117
Palant Cleft Palate Syndrome
Cleft palate, Upslanted palpebral fissure, Contracture of the proximal interphalangeal joint of t... OMIM:260150
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mell... ORPHA:435651
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Lacrimal duct aplasia, Median cleft lip, Split hand... DECIPHER:46
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... OMIM:122600
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... OMIM:614300
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Retinal coloboma, Long philtrum, De... OMIM:157980
Isolated Polycystic Liver Disease
Polycystic liver disease, Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas ORPHA:2924
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly OMIM:614416
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... OMIM:617156
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma ORPHA:2921
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Ankyloblepharon, Cleft palate, Non-midline cleft lip, Cryptorchidism ORPHA:1074
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Convex nasal ridge, Abnormal hair quantity, Severe short... ORPHA:2617
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... OMIM:611638
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin, Ascites, Elevated circulating alkaline phosp... OMIM:174050
Verheij Syndrome
Growth delay, Short stature, Hemivertebrae, Microcephaly, Short neck, Scoliosis, Long philtrum, S... OMIM:615583
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Increased total biliru... OMIM:618528
Acropectorovertebral Dysplasia
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... ORPHA:957
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cleft palate, Retinal coloboma, Retinal dystrophy, Oral cleft, Iris coloboma, Hand... ORPHA:220493
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... ORPHA:1414
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... ORPHA:247598
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Short ribs, Micrognathia, Micromelia, Postaxial hand pol... OMIM:241800
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... ORPHA:247585
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... OMIM:606069
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia ORPHA:181393
46,Xx Sex Reversal 4
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis OMIM:617480
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Drumstick terminal phalanges, Hydrocephalus, Cleft palate, Thin vermil... OMIM:612938
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure OMIM:177000
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microretrognathia, Abnormal morphology of ulna, Cleft palate, Split fo... ORPHA:1307
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Agenesis of molar, Supernumerary tooth, Anterior plagiocephaly, Osteopenia, Scoliosis, ... OMIM:619718
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Intellectual Developmental Disorder, Autosomal Dominant 1
Wide mouth, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microdontia, Short nose, Long eye... OMIM:156200
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Preaxial hand polydactyly, Cleft palate OMIM:601420
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... ORPHA:370
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia OMIM:233270
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Diabetes mellitus, Insulin res... OMIM:615381
Tibial Hemimelia
Cleft palate, Radial club hand, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Talipes equin... ORPHA:93322
Steinfeld Syndrome
Holoprosencephaly, Hypoplasia of the radius, Retinal coloboma, Bifid uvula, Hypoplasia of the uln... OMIM:184705
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pinna morphology, Sparse hair, Sparse eyebrow, Hemivertebrae, Short neck, Rhizomelia, Mi... OMIM:302960
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Sparse eyelashes, Sparse eyebrow, Cutaneous... OMIM:225000
Three M Syndrome 1
Increased vertebral height, Pectus excavatum, Clinodactyly of the 5th finger, Short ribs, Short n... OMIM:273750
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporo... ORPHA:93351
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis OMIM:309620
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... ORPHA:2791
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Palpe... OMIM:607323
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly ORPHA:294975
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... OMIM:300431
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly, Hypogonadism OMIM:615988
Increased bone mineral density OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... ORPHA:363400
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Holoprosencephaly, Short femur, Amelia, Anterior encephalocele, Bilateral cleft ... OMIM:601357
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Splenomegaly, Hepatosplenomegaly, Recurren... OMIM:613101
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Neuronal Intranuclear Inclusion Disease
Optic atrophy, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta ORPHA:2289
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Talipes equinovarus, Macroglossia, Micropenis, Hypospadias, Long philtrum, Downslant... OMIM:141750
Bardet-Biedl Syndrome 4
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Abnormality of the dentiti... OMIM:615982
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Macrocephaly, Genu recurvatum, Prominent median ... OMIM:300602
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Small thenar eminence, Dermatoglyphic ridges ... OMIM:211960
Doors Syndrome
High palate, Macrodontia of permanent maxillary central incisor, Cleft palate, Abnormality of the... ORPHA:79500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single transverse palmar c... ORPHA:915
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Platyspondyly, Stiff neck OMIM:616583
Cholestasis, Benign Recurrent Intrahepatic, 1
Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... OMIM:184255
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... ORPHA:79230
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Reduced bone mineral density, Short neck, Spina bifida occulta, Genu valgum, Short thorax ORPHA:2983
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Cleft palate, Depressed nasal bridge, Micrognathia, Hemivertebrae, Prominent occip... OMIM:220210
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... OMIM:616860
Winchester Syndrome
Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized os... OMIM:277950
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... ORPHA:314811
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... ORPHA:93284
Pelvis-Shoulder Dysplasia
Short clavicles, Lumbar hyperlordosis, Back pain, Clinodactyly of the 5th finger, Hypoplastic ili... OMIM:169550
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... OMIM:602418
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... OMIM:178110
Oculogastrointestinal Neurodevelopmental Syndrome
Hirsutism, Low hanging columella, Short stature, Hemivertebrae, Microcephaly, Unilateral micropht... OMIM:619318
Phenobarbital Embryopathy
Hypospadias, Brachydactyly, Epicanthus, Unilateral cleft lip, Aplasia/Hypoplasia of fingers ORPHA:1919
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Increased C-peptide level, Hypertriglyceridemia, Hyper... ORPHA:528
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Coloboma, Microphthalmia, Ptosis OMIM:120433
Bardet-Biedl Syndrome 12
Polydactyly, Rod-cone dystrophy, Hypogonadism OMIM:615989
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Pectus excavatum, Scoliosis, Abn... ORPHA:3219
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Intestinal malrotation, Partial duplication of thumb ... OMIM:601165
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Rocker bottom foot, Microphthalmia OMIM:616570
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Male pseudohermaphroditism, Narrow palpebral fissure, Bilateral microphtha... OMIM:600122
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... OMIM:619481
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance OMIM:617885
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cleft palate, Ab... OMIM:251230
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Platyspondyly, Joint contract... OMIM:601668
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Brachydactyly,... ORPHA:1406
Cenani-Lenz Syndrome
Ptosis, Ectropion, Hypodontia, High, narrow palate, Finger syndactyly, Hypoplasia of the radius, ... ORPHA:3258
Frank-Ter Haar Syndrome
Avascular necrosis, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Genu recurvatum, Wide... ORPHA:137834
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Patchy alopecia, Short mandibular rami, Microtia, Poliosis, Delaye... OMIM:141300
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Kbg Syndrome
Cleft palate, Short neck, Macrodontia, Bilateral conductive hearing impairment, Widely-spaced max... ORPHA:2332
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Sensorineural hearing impairment, Dentinogenesis imperfecta, Short stature, Short philtrum, Platy... ORPHA:71267
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Aplasia/Hypoplasia of the tongue, Overfolded helix, Hemivertebrae, Abnormal form of... ORPHA:2759
Filippi Syndrome
Hypertrichosis, Postnatal growth retardation, Hypodontia, Low hanging columella, Sparse hair, Thi... OMIM:272440
Intellectual Disability, Birk-Barel Type
Protruding ear, High, narrow palate, Dolichocephaly, Broad nasal tip, Micrognathia, Short philtru... ORPHA:166108
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Congenital Disorder Of Deglycosylation 2
High palate, Ulnar deviation of the hand, Genu recurvatum, Macroglossia, Bilateral talipes equino... OMIM:619775
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Narrow mouth, Talipes equinovarus, Short tibia, Short philtrum, Mic... OMIM:201170
Proximal 16P11.2 Microduplication Syndrome
Sparse eyebrow, Microtia, Sparse eyelashes, Hemivertebrae, Microcephaly, Short stature, Scoliosis... ORPHA:370079
Non-Distal Trisomy 10Q
High palate, Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, Everted lower lip vermilio... ORPHA:1695
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Wide mouth, Cleft upper lip, Macrocephaly, Thick eyebrow, Cleft pa... ORPHA:1394
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... ORPHA:264580
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Telecanthus, Median cleft lip OMIM:300484
Orofaciodigital Syndrome Xiv
Cleft palate, Lobulated tongue, Optic disc coloboma, Anteriorly placed anus, Postaxial polydactyl... OMIM:615948
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Elevated hepatic tr... ORPHA:2089
3C Syndrome
Kyphosis, Hydrocephalus, Macrocephaly, High, narrow palate, Cleft palate, Short stature, Depresse... ORPHA:7
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Abnormal bone ossificat... ORPHA:2563
Femoral-Facial Syndrome
Vertebral segmentation defect, Sprengel anomaly, Rib fusion, Coxa vara, Talipes equinovarus, Apla... ORPHA:1988
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... ORPHA:79302
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... OMIM:619013
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Persistence of primary teeth, Talipes equinovarus, Macroglossia, Ev... OMIM:610253
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Sacral dimple OMIM:618845
Developmental And Epileptic Encephalopathy 80
High palate, Wide mouth, Short distal phalanx of finger, Talipes equinovarus, Upslanted palpebral... OMIM:618580
Distal Monosomy 7Q36
Wide mouth, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Holoprosencephaly,... ORPHA:1636
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Genu varum, Telecanthus, ... ORPHA:1777
Endosteal Hyperostosis, Worth Type
Facial palsy, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morpholog... ORPHA:2790
Bruck Syndrome 1
Hip contracture, Kyphosis, Coxa vara, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... OMIM:259450
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Occipital encephalocele, Anencephaly, Dilated... OMIM:614175
Acrofacial Dysostosis, Catania Type
Single transverse palmar crease, Short palm, Spina bifida occulta OMIM:101805
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Genu valgum, Clinod... ORPHA:166024
Hall-Riggs Syndrome
Joint stiffness, Wide mouth, Short stature, Microcephaly, Platyspondyly, Wide nasal bridge, Delay... ORPHA:2107
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Cholestasis, Hyperbilirubinemia OMIM:609734
Acrofrontofacionasal Dysostosis
High palate, Short distal phalanx of finger, Cleft palate, Everted lower lip vermilion, Bifid scr... ORPHA:1784
Cofs Syndrome
Sensorineural hearing impairment, Joint stiffness, Everted lower lip vermilion, Short stature, Ab... ORPHA:1466
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Braddock Syndrome
Intrauterine growth retardation, Short stature, Overfolded helix, Micrognathia, Hemivertebrae, Sh... ORPHA:52047
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dental malocclusion, Dislocated radial head, Kyphoscoliosis, High ... OMIM:612350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint ORPHA:1570
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Abnormal hair quantity, Periapical tooth abscess, Do... ORPHA:3352
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, H... ORPHA:79240
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... OMIM:262400
Decreased liver function, Hyperinsulinemic hypoglycemia, Hepatomegaly, Abnormal enzyme/coenzyme a... ORPHA:79319
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Autosomal Recessive Amelia
Hypoplasia of penis, Micrognathia, Acromelia of the lower limbs, Amelia, Oral cleft, Amelia invol... ORPHA:1027
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Hypertrichosis, Macrocephaly, Cleft palate, Craniosynostosis, Hemivertebrae, Short n... OMIM:213980
Holzgreve Syndrome
Cleft upper lip, Cleft palate, Hand polydactyly OMIM:236110
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Cleft palate, Adducted thumb, Upslanted palpebral fissure, ... ORPHA:1794
Blepharocheilodontic Syndrome 1
Cleft upper lip, Anal atresia, Hypodontia, Cutaneous syndactyly, Neural tube defect, Distichiasis... OMIM:119580
Down Syndrome
Anal atresia, Narrow mouth, Narrow palate, Clinodactyly of the 5th finger, Macroglossia, Upslante... ORPHA:870
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... OMIM:619111
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Scoliosis, Spina bifida occulta, Bicoronal synostosis, Lambdoidal cranios... OMIM:618736
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Broad hallux, Abnormal optic disc morphology, Unilateral ptosis, Microphthalmia, C... ORPHA:508498
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cryptorchidism, Cleft palate,... OMIM:603671
Trichorhinophalangeal Syndrome, Type Iii
Protruding ear, Supernumerary tooth, Sparse hair, Short stature, Osteopenia, Scoliosis, Avascular... OMIM:190351
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Thick eyebrow, Large hands, Epicanthus, Protruding tongue, Thick vermilion bo... ORPHA:1446
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Optic n... OMIM:607597
Autosomal Dominant Robinow Syndrome
Macrocephaly, Alopecia, Depressed nasal bridge, Hemivertebrae, Short neck, Short philtrum, Finger... ORPHA:3107
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Oculodentodigital Dysplasia
Abnormal pinna morphology, Sparse hair, Cleft palate, Dry hair, Microdontia, Carious teeth, Micro... OMIM:164200
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Otodental Dysplasia
Sensorineural hearing impairment, Taurodontia, Agenesis of premolar, Long philtrum, Delayed erupt... OMIM:166750
Cerebrooculofacioskeletal Syndrome 1
Sensorineural hearing impairment, Kyphoscoliosis, Hirsutism, Microphthalmia, Joint contracture of... OMIM:214150
Aplasia/Hypoplasia affecting the eye, Wide mouth, Narrow mouth, Hydrocephalus, Hypoplasia of peni... ORPHA:3376
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Sparse hair, Thin vermilion border, Thin calvarium, Micrognathi... OMIM:601812
Bardet-Biedl Syndrome 7
Narrow mouth, 2-3 toe syndactyly, Rod-cone dystrophy, Postaxial polydactyly, Polydactyly, Clinoda... OMIM:615984
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Polydactyly, Rod-c... OMIM:615990
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Macrocephaly, Triangular mouth, Hypoplastic sacrum, Depressed nasal bridge, Hemiverte... OMIM:268310
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth agenesis, Tooth malposition, Sparse hair, Alopecia, Sparse body hair,... ORPHA:2722
Pierpont Syndrome
Uplifted earlobe, Microphthalmia, Long upper lip, Malar flattening, Everted lower lip vermilion, ... ORPHA:487825
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Dental crowding, Macrocephaly, Low hanging columella, Highly arched eyeb... OMIM:618825
Pierpont Syndrome
Prominent fingertip pads, Microphthalmia, Deep plantar creases, Prominent median palatal raphe, D... OMIM:602342
Zechi-Ceide Syndrome
Cleft upper lip, Short distal phalanx of finger, Short palpebral fissure, Cleft palate, Oligodont... OMIM:612916
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut... OMIM:619484
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Hepatomegaly, Elevated circulating alkaline phospha... ORPHA:2088
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Cousin Syndrome
Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Rhizomelia, Absent proximal finger flex... OMIM:260660
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cirrhosis, Hepatic fib... OMIM:602579
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:619386
Isolated Hemihyperplasia
Myelomeningocele, Scoliosis, Asymmetry of the thorax ORPHA:2128
Monosomy 18P
Abnormal antihelix morphology, Cleft palate, Alopecia, Short philtrum, Short neck, Carious teeth,... ORPHA:1598
Dubin-Johnson Syndrome
Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice, Abnormality of ... ORPHA:234
Hyperlipoproteinemia, Type Id
Colitis, Pancreatitis, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly, Decreased HDL cholestero... OMIM:615947
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circu... OMIM:238600
Kapur-Toriello Syndrome
Hypoplasia of penis, Retinal coloboma, Iris coloboma, Microphthalmia, Hypoplastic labia majora ORPHA:2328
Fibromatosis, Gingival, With Distinctive Facies
High palate, Macrocephaly, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermili... OMIM:228560
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Micromelia, Anencephaly, Unilateral cleft ... ORPHA:63862
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Acute pancre... ORPHA:79086
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Wildervanck Syndrome
Short neck, Pseudopapilledema, Fused cervical vertebrae, Meningocele, Facial palsy ORPHA:3456
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Familial Chylomicronemia Syndrome
Hyperlipidemia, Jaundice, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased... ORPHA:444490
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Macrocephaly, Thick eyebrow, Everted lower lip vermilion, Depre... ORPHA:2025
Blepharonasofacial Malformation Syndrome
Tooth agenesis, Cleft palate, Long philtrum, Telecanthus, Epicanthus, Optic atrophy, Abnormal eye... ORPHA:1252
Osteoglosphonic Dysplasia
Protruding ear, Abnormal bone ossification, Tooth agenesis, Severe short stature, Craniosynostosi... ORPHA:2645
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Insulin resista... ORPHA:90970
Bartsocas-Papas Syndrome 1
Ablepharon, Ankyloblepharon, Cleft palate, Absent thumb, Ambiguous genitalia, Oral synechia, Cica... OMIM:263650
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Hypertriglyceridemia, Ins... ORPHA:79083
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Accelerated bone ... OMIM:190350
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Abnormal helix morphology, Sparse hair, Alopecia, Abnormal toenail... ORPHA:1005
Joubert Syndrome 1
Macroglossia, Retinal dysplasia, Optic disc coloboma, Retinal dystrophy, Postaxial hand polydacty... OMIM:213300
Smith-Magenis Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Short nose, Tented upper lip vermilion, Ope... ORPHA:819
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... OMIM:300244
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyl... OMIM:611561
Meckel Syndrome 13
Micrognathia, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Pectus carinatum, ... OMIM:184260
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, G... ORPHA:412
Dentinogenesis imperfecta, Short stature, Retrognathia, Depressed nasal bridge, Platyspondyly, Sc... ORPHA:166272
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... ORPHA:1106
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Large earlobe, Bulbous nose, Prominent ear helix, Thick eyebrow, Low an... ORPHA:411986
Trisomy 4P
Abnormal antihelix morphology, Low anterior hairline, Thick eyebrow, Short stature, Depressed nas... ORPHA:1738
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Brachyolmia Type 2
Platyspondyly OMIM:613678
Hydrocephalus, Cleft palate, Micrognathia, Gingival cleft, Micromelia, Bifid uvula, Anencephaly, ... ORPHA:2189
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Micromelia, Abnormal... ORPHA:1350
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder morphology, Abnormal pa... ORPHA:1277
Trisomy 8Q
High palate, Myelomeningocele, Hypoplasia of penis, Cleft palate, Everted lower lip vermilion, Up... ORPHA:1752
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Diastrophic Dysplasia
Cervical kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hypoplastic cervica... OMIM:222600
Warburg Micro Syndrome 1
Kyphoscoliosis, Narrow mouth, Hypertrichosis, Microphthalmia, Short stature, Thin vermilion borde... OMIM:600118
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, E... ORPHA:2911
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma OMIM:107550
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia ORPHA:156
Leber Congenital Amaurosis 9
Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, Attenuation of reti... OMIM:608553
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Conjugated... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, H... OMIM:601847
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Depressed nasal bridge, Hemivertebrae, Short nose, Umbilical hernia, Mandibular prognathia, Widel... OMIM:301040
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Bardet-Biedl Syndrome 10
Retinal dystrophy, Polydactyly, Rod-cone dystrophy, Hypogonadism OMIM:615987
Mosaic Trisomy 9
High palate, Intrauterine growth retardation, Bulbous nose, Webbed neck, Cleft palate, Micrognath... ORPHA:99776
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Kyphoscoliosis, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... OMIM:208230
Anauxetic Dysplasia 2
Nail dysplasia, Relative macrocephaly, Hypodontia, Flexion contracture, Macroglossia, Sparse hair... OMIM:617396
Lowry-Maclean Syndrome
Convex nasal ridge, Cleft palate, Craniosynostosis, Microcephaly, Delayed eruption of teeth, Intr... OMIM:600252
Cleidocranial Dysplasia
Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... ORPHA:1452
Codas Syndrome
Delayed skeletal maturation, Sensorineural hearing impairment, Coronal cleft vertebrae, Short sta... ORPHA:1458
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Metatropic Dysplasia
Narrow chest, Joint stiffness, Hydrocephalus, Kyphosis, Coarse metaphyseal trabecularization, Hal... ORPHA:2635
Juberg-Hayward Syndrome
Cleft upper lip, Abnormality of toe, Highly arched eyebrow, Limited elbow extension, Anteriorly p... OMIM:216100
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Craniosynostosis, Sparse eyelashes, Depressed ... OMIM:616901
Craniometadiaphyseal Dysplasia
High palate, Low-set ears, Wide anterior fontanel, Sclerosis of skull base, Macrocephaly, Malar f... OMIM:269300
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Sensorineural hearing impairment, Hypertrichosis, Relative macrocep... OMIM:616354
Robinow Syndrome
Macrocephaly, Triangular mouth, Broad alveolar ridges, Depressed nasal bridge, Broad nasal tip, H... ORPHA:97360
Mohr Syndrome
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication o... OMIM:252100
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Optic atrophy, Sagittal crani... OMIM:201000
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Hyponatremia, Prolonged n... ORPHA:199296
Spinocerebellar Ataxia-Dysmorphism Syndrome
Reduced bone mineral density, Spina bifida occulta, Slender long bone, Optic atrophy, Cubitus val... ORPHA:1185
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Large fleshy ears, Severe short stature, Flexion contracture, Generalized hypoplasia of dental en... OMIM:203550
Tetrasomy 12P
Thick upper lip vermilion, Sparse hair, Abnormal soft palate morphology, Everted lower lip vermil... ORPHA:884
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Verte... OMIM:613982
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Polydactyly, Dandy-Walker malformation OMIM:614465
Porphyria Cutanea Tarda, Type I
Eczema, Hepatic fibrosis OMIM:176090
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Joubert Syndrome 14
Hydrocephalus, Microphthalmia, Postaxial polydactyly, Morning glory anomaly, Short philtrum, Colo... OMIM:614424
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Pectus excavatum, Flared iliac wing, Craniosynostosis, Partial du... ORPHA:949
Witkop Syndrome
Sparse hair, Agenesis of permanent teeth, Microdontia of primary teeth, Ridged nail, Fine hair, C... OMIM:189500
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Humero-Radial Synostosis
Elbow ankylosis, Abnormality of the wrist, Tarsal synostosis, Meningocele, Aplasia/Hypoplasia of ... ORPHA:3265
Temple Syndrome
Maturity-onset diabetes of the young, Hypertriglyceridemia, Recurrent otitis media, Hypercholeste... OMIM:616222
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hydrocephalus, Cleft palate, Micromelia, Ambiguous genitalia, Sandal gap, Microphallus, Small scr... OMIM:612651
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Incontinentia Pigmenti
Sparse hair, Alopecia, Hemivertebrae, Coarse hair, Delayed eruption of teeth, Hypoplasia of the f... OMIM:308300
Abruzzo-Erickson Syndrome